Mutation analysis of four Chinese families with pure hereditary spastic paraplegia: pseudo- X-linked dominant inheritance and male lethality due to a novel ATL1 mutation.

Zhao, N; Sui, Y; Li, X F; Liu, W; Lu, Y P; Feng, W H; Ma, C; Wang, Y W; Bao, H X; Huang, F; Wang, H; Yi, D X; Han, W T; Jiang, M

Zhao, N; Sui, Y; Li, X F; Liu, W; Lu, Y P; Feng, W H; Ma, C; Wang, Y W; Bao, H X; Huang, F; Wang, H; Yi, D X; Han, W T; Jiang, M.

Afiliação

Zhao N; Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, Shenyang, China.
Sui Y; Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, Shenyang, China.
Li XF; Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, Shenyang, China.
Liu W; Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, Shenyang, China.
Lu YP; Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, Shenyang, China.
Feng WH; Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, Shenyang, China.
Ma C; Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, Shenyang, China.
Wang YW; Affiliated Hospital of Liaoning Provincial Research Institute, National Health and Family Planning Commission, Shenyang, China.
Bao HX; Affiliated Hospital of Liaoning Provincial Research Institute, National Health and Family Planning Commission, Shenyang, China.
Huang F; Affiliated Hospital of Liaoning Provincial Research Institute, National Health and Family Planning Commission, Shenyang, China.
Wang H; Affiliated Hospital of Liaoning Provincial Research Institute, National Health and Family Planning Commission, Shenyang, China.
Yi DX; Affiliated Hospital of Liaoning Provincial Research Institute, National Health and Family Planning Commission, Shenyang, China.
Han WT; Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, Shenyang, China.
Jiang M; Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, Shenyang, China.

Genet Mol Res ; 14(4): 14690-7, 2015 Nov 23.

Article em En | MEDLINE | ID: mdl-26600529

Assuntos

Adenosina Trifosfatases/genética; Proteínas de Ligação ao GTP/genética; Ligação Genética; Proteínas de Membrana/genética; Paraplegia Espástica Hereditária/genética; Adolescente; Adulto; Povo Asiático; Criança; Pré-Escolar; Análise Mutacional de DNA; Feminino; Genes Letais; Genes Ligados ao Cromossomo X; Humanos; Masculino; Pessoa de Meia-Idade; Mutação/genética; Linhagem; Diagnóstico Pré-Natal; Paraplegia Espástica Hereditária/fisiopatologia; Espastina

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Adenosina Trifosfatases / Proteínas de Ligação ao GTP / Ligação Genética / Proteínas de Membrana Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2015 Tipo de documento: Article

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